DDG2P
Gene: POP1

POP1 (POP1 homolog, ribonuclease P/MRP subunit)
EnsemblGeneIds (GRCh38): ENSG00000104356
EnsemblGeneIds (GRCh37): ENSG00000104356
OMIM: 602486, Gene2Phenotype
POP1 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for POP1-related anauxetic dysplasia are definitive, biallelic_autosomal and undetermined (PMIDs: 21455487, 27380734, 28067412, 32134183, 38351533). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03497.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
POP1-related anauxetic dysplasia; MONDO:0054561; OMIM:617396.0

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

OMIM:617396.0
MONDO:0054561
POP1-related anauxetic dysplasia

OMIM

602486

Clinvar variants

Variants in POP1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: POP1 was added gene: POP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POP1 were set to 32134183; 28067412; 21455487; 38351533; 27380734 Phenotypes for gene: POP1 were set to OMIM:617396.0; MONDO:0054561; POP1-related anauxetic dysplasia

DDG2P Gene: POP1